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Fusion gene ID: 1334 |
FusionGeneSummary for AKAP1_PITPNC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AKAP1_PITPNC1 | Fusion gene ID: 1334 | Hgene | Tgene | Gene symbol | AKAP1 | PITPNC1 | Gene ID | 8165 | 26207 |
| Gene name | A-kinase anchoring protein 1 | phosphatidylinositol transfer protein cytoplasmic 1 | |
| Synonyms | AKAP|AKAP121|AKAP149|AKAP84|D-AKAP1|PPP1R43|PRKA1|SAKAP84|TDRD17 | M-RDGB-beta|MRDGBbeta|RDGB-BETA|RDGBB|RDGBB1 | |
| Cytomap | 17q22 | 17q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | A-kinase anchor protein 1, mitochondrialA kinase (PRKA) anchor protein 1A-kinase anchor protein 149 kDaAKAP 149D-AKAP-1dual-specificity A-kinase anchoring protein 1protein kinase A anchoring protein 1protein kinase A1protein phosphatase 1, regulat | cytoplasmic phosphatidylinositol transfer protein 1M-rdgB betamammalian rdgB homolog betaretinal degeneration B beta 1retinal degeneration B homolog beta | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q92667 | Q9UKF7 | |
| Ensembl transtripts involved in fusion gene | ENST00000337714, ENST00000314126, ENST00000571629, ENST00000572557, ENST00000539273, | ENST00000580974, ENST00000299954, ENST00000335257, ENST00000581322, | |
| Fusion gene scores | * DoF score | 6 X 3 X 2=36 | 23 X 12 X 9=2484 |
| # samples | 5 | 26 | |
| ** MAII score | log2(5/36*10)=0.473931188332412 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(26/2484*10)=-3.25608164519203 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AKAP1 [Title/Abstract] AND PITPNC1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | PITPNC1 | GO:0015914 | phospholipid transport | 22822086 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | BRCA | TCGA-E2-A14V-01A | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5UTR-3CDS | ENST00000337714 | ENST00000580974 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| 5UTR-3CDS | ENST00000337714 | ENST00000299954 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| 5UTR-3CDS | ENST00000337714 | ENST00000335257 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| 5UTR-3CDS | ENST00000337714 | ENST00000581322 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| 5UTR-3CDS | ENST00000314126 | ENST00000580974 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| 5UTR-3CDS | ENST00000314126 | ENST00000299954 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| 5UTR-3CDS | ENST00000314126 | ENST00000335257 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| 5UTR-3CDS | ENST00000314126 | ENST00000581322 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| intron-3CDS | ENST00000571629 | ENST00000580974 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| intron-3CDS | ENST00000571629 | ENST00000299954 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| intron-3CDS | ENST00000571629 | ENST00000335257 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| intron-3CDS | ENST00000571629 | ENST00000581322 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| intron-3CDS | ENST00000572557 | ENST00000580974 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| intron-3CDS | ENST00000572557 | ENST00000299954 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| intron-3CDS | ENST00000572557 | ENST00000335257 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| intron-3CDS | ENST00000572557 | ENST00000581322 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| intron-3CDS | ENST00000539273 | ENST00000580974 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| intron-3CDS | ENST00000539273 | ENST00000299954 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| intron-3CDS | ENST00000539273 | ENST00000335257 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
| intron-3CDS | ENST00000539273 | ENST00000581322 | AKAP1 | chr17 | 55162759 | + | PITPNC1 | chr17 | 65574302 | + |
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FusionProtFeatures for AKAP1_PITPNC1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AKAP1 | PITPNC1 |